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Aliases for GLRA4 Gene

Aliases for GLRA4 Gene

  • Glycine Receptor Alpha 4 2 3 5

External Ids for GLRA4 Gene

Previous GeneCards Identifiers for GLRA4 Gene

  • GC0XM102779
  • GC0XU900745
  • GC0XM102849
  • GC0XM102962
  • GC0XM092619

Summaries for GLRA4 Gene

Entrez Gene Summary for GLRA4 Gene

  • This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for GLRA4 Gene

GLRA4 (Glycine Receptor Alpha 4) is a Protein Coding gene. Diseases associated with GLRA4 include Pelizaeus-Merzbacher Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include chloride channel activity and glycine binding. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot for GLRA4 Gene

  • Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents.

Tocris Summary for GLRA4 Gene

  • Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem.

Gene Wiki entry for GLRA4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLRA4 Gene

Genomics for GLRA4 Gene

Regulatory Elements for GLRA4 Gene

Enhancers for GLRA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG103701 0.7 dbSUPER 13.1 +21.5 21515 10.8 HDGF CTCF MXI1 MAX BMI1 ZIC2 RAD21 ZNF664 GATA3 ZBTB48 GLRA4 PLP1 TCEAL3 BEX4 BEX2 TMEM31 MORF4L2
GH0XG103766 0.6 Ensembl ENCODE 6.1 -38.6 -38570 1.2 REST TMEM31 GLRA4 PLP1
GH0XG103769 0.4 ENCODE 6.2 -41.1 -41050 0.1 ZNF664 ZSCAN4 GLRA4 TMSB15B PLP1
GH0XG103782 0.5 ENCODE dbSUPER 4.9 -55.0 -54952 2.1 GLRA4 TMSB15B BEX2 PLP1 RAB9B
GH0XG103785 0.4 dbSUPER 5.9 -57.2 -57161 1.3 PKNOX1 GLRA4 PLP1 RAB9B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLRA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLRA4 Gene

Chromosome:
X
Start:
103,707,224 bp from pter
End:
103,728,655 bp from pter
Size:
21,432 bases
Orientation:
Minus strand

Genomic View for GLRA4 Gene

Genes around GLRA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLRA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLRA4 Gene

Proteins for GLRA4 Gene

  • Protein details for GLRA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JXX5-GLRA4_HUMAN
    Recommended name:
    Glycine receptor subunit alpha-4
    Protein Accession:
    Q5JXX5

    Protein attributes for GLRA4 Gene

    Size:
    417 amino acids
    Molecular mass:
    47728 Da
    Quaternary structure:
    • Homopentamer (in vitro). Pentamer composed of alpha and beta subunits.
    Miscellaneous:
    • The alpha subunit binds strychnine.

neXtProt entry for GLRA4 Gene

Post-translational modifications for GLRA4 Gene

  • Glycosylation at Asn72
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLRA4 Gene

Domains & Families for GLRA4 Gene

Gene Families for GLRA4 Gene

Suggested Antigen Peptide Sequences for GLRA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JXX5

UniProtKB/Swiss-Prot:

GLRA4_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4 sub-subfamily.
genes like me logo Genes that share domains with GLRA4: view

Function for GLRA4 Gene

Molecular function for GLRA4 Gene

UniProtKB/Swiss-Prot Function:
Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents.

Gene Ontology (GO) - Molecular Function for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IEA --
GO:0016594 contributes_to glycine binding IBA,IEA --
GO:0016934 contributes_to extracellular-glycine-gated chloride channel activity IEA,IBA --
GO:0022824 transmitter-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with GLRA4: view

Phenotypes for GLRA4 Gene

genes like me logo Genes that share phenotypes with GLRA4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GLRA4 Gene

Localization for GLRA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLRA4 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell junction, synapse. Perikaryon. Cell projection, dendrite. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLRA4 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GLRA4: view

Pathways & Interactions for GLRA4 Gene

genes like me logo Genes that share pathways with GLRA4: view

Pathways by source for GLRA4 Gene

Interacting Proteins for GLRA4 Gene

Gene Ontology (GO) - Biological Process for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007218 neuropeptide signaling pathway IBA --
GO:0043200 response to amino acid IBA,IEA --
genes like me logo Genes that share ontologies with GLRA4: view

No data available for SIGNOR curated interactions for GLRA4 Gene

Drugs & Compounds for GLRA4 Gene

(5) Drugs for GLRA4 Gene - From: ApexBio and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist Glycine receptor agonist 0
L-Serine Approved Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Taurine Experimental Nutra Non-selective, endogenous glycine receptor partial agonist 28
Hypotaurine Pharma Non-selective endogenous glycine receptor agonist 0

(1) Additional Compounds for GLRA4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(5) Tocris Compounds for GLRA4 Gene

Compound Action Cas Number
beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 107-95-9
Hypotaurine Non-selective endogenous glycine receptor agonist 300-84-5
L-Alanine Glycine receptor agonist 56-41-7
L-Serine Weak endogenous glycine receptor agonist 56-45-1
Taurine Non-selective, endogenous glycine receptor partial agonist 107-35-7

(1) ApexBio Compounds for GLRA4 Gene

Compound Action Cas Number
Hypotaurine 300-84-5
genes like me logo Genes that share compounds with GLRA4: view

Drug Products

Transcripts for GLRA4 Gene

mRNA/cDNA for GLRA4 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GLRA4 Gene

Glycine receptor, alpha 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLRA4 Gene

No ASD Table

Relevant External Links for GLRA4 Gene

GeneLoc Exon Structure for
GLRA4
ECgene alternative splicing isoforms for
GLRA4

Expression for GLRA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLRA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLRA4 Gene

This gene is overexpressed in Brain - Cerebellum (x4.7) and Brain - Cerebellar Hemisphere (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of GLRA4 Gene:

GLRA4

SOURCE GeneReport for Unigene cluster for GLRA4 Gene:

Hs.533289

mRNA Expression by UniProt/SwissProt for GLRA4 Gene:

Q5JXX5-GLRA4_HUMAN
Tissue specificity: Detected in trachea smooth muscle.
genes like me logo Genes that share expression patterns with GLRA4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRA4 Gene

Orthologs for GLRA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLRA4 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia GLRA4 34 35
  • 92.81 (n)
mouse
(Mus musculus)
Mammalia Glra4 34 16 35
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Glra4 34
  • 89.5 (n)
cow
(Bos Taurus)
Mammalia GLRA4 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA4 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRA4 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLRA4 34 35
  • 80.8 (n)
lizard
(Anolis carolinensis)
Reptilia GLRA4 35
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii glra4a 34 35
  • 76.75 (n)
glra4b 35
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rdl 34
  • 51.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006028 34
  • 49.63 (n)
worm
(Caenorhabditis elegans)
Secernentea lgc-38 34
  • 53.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for GLRA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLRA4 Gene

ENSEMBL:
Gene Tree for GLRA4 (if available)
TreeFam:
Gene Tree for GLRA4 (if available)

Paralogs for GLRA4 Gene

genes like me logo Genes that share paralogs with GLRA4: view

Variants for GLRA4 Gene

Sequence variations from dbSNP and Humsavar for GLRA4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000180948 -- 103,714,885(+) GCACA(A/G)TTTTG intron-variant
rs1000464531 -- 103,711,018(+) TACAG(C/G)CAACT intron-variant, utr-variant-5-prime
rs1000516223 -- 103,710,632(+) GCCTC(C/G)AAAAT intron-variant, upstream-variant-2KB
rs1000649627 -- 103,712,914(+) GTGCC(C/T)ATGCC intron-variant
rs1000720724 -- 103,715,232(+) TAAGA(A/G)GGCAT intron-variant

Variation tolerance for GLRA4 Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 78.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLRA4 Gene

Human Gene Mutation Database (HGMD)
GLRA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GLRA4 Gene

Disorders for GLRA4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLRA4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pelizaeus-merzbacher disease
  • diffuse cerebral sclerosis of schilder
- elite association - COSMIC cancer census association via MalaCards
Search GLRA4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GLRA4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLRA4
genes like me logo Genes that share disorders with GLRA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLRA4 Gene

Publications for GLRA4 Gene

  1. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64
  2. Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth muscle. (PMID: 21282206) Yim P.D. … Emala C.W. (FASEB J. 2011) 4 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  5. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3 64

Products for GLRA4 Gene

Sources for GLRA4 Gene

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